Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome.

ABSTRACT: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by mutations in RECQL4 and has characteristic clinical features. We report two unrelated phenotypically diverse patients (cases 1 and 2) with RTS having novel variants in RECQL4 gene . Case-1 was evaluated for poor growth and recurrent fractures and skin lesions. Case-2 presented at 4 months with failure to thrive and radial ray defect and developed poikilodermatous skin lesions after infancy. Both cases were confirmed to have homozygous pathogenic variants in RECQL4 . Both patients have normal intellect and are on supportive therapy. The presence of characteristic poikiloderma lesions with specific distribution and skeletal anomalies in a patient with proportionate short stature is a clue to

SUBMITTER: Yadav S 

PROVIDER: S-EPMC6688877 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature